Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

6 matching diseasesClear search ×

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

ORPHA:309192

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

ORPHA:309271

Sandhoff disease, adult form

GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

ORPHA:309169

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

ORPHA:845

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

ORPHA:309178

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

ORPHA:309185